Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

Mussa, Alessandro; Méndez-Vidal, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista

doi:10.1016/j.jpeds.2016.05.038

Cited by 126 publications

(153 citation statements)

References 41 publications

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“…This may allow separation of groups of affected individuals based on their molecular background or based on a pattern of concomitant subtle features that becomes evident. Such subdivisions may also indicate differences in nature, age of onset, reaction to various management schemes, prognosis, and risks for cancer in the affected individuals and their families, similar to what the recent studies in BWS have shown [Maas et al, 2016; Mussa et al, 2016]. …”

Section: Lateralized Overgrowthsupporting

confidence: 61%

“…Recently two overviews have appeared on cancer risks and surveillance in Beckwith-Wiedemann syndrome (BWS) [Maas et al, 2016; Mussa et al, 2016]. This has prompted us as an international group of researchers to initiate a similar study of “isolated hemihyperplasia” (IHH; OMIM 23500), as IHH shares with BWS the body asymmetry and risk to develop cancer [Clericuzio and Martin, 2009].…”

mentioning

confidence: 99%

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Nomenclature and definition in asymmetric regional body overgrowth

Kalish

Biesecker

Brioude

et al. 2017

American J of Med Genetics Pt A

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We designate a novel term “isolated lateralized overgrowth” (ILO) for the findings previously described as “isolated hemihypertrophy” and “isolated hemihyperplasia.” ILO is defined as lateralized overgrowth in the absence of a recognized pattern of malformations, dysplasia, or morphologic variants. ILO is likely genetically heterogeneous. Further study is required to determine more of the underlying genetic etiologies and potential associations with currently unrecognized patterns of malformation.

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Section: Lateralized Overgrowthsupporting

confidence: 61%

mentioning

confidence: 99%

Nomenclature and definition in asymmetric regional body overgrowth

Kalish

Biesecker

Brioude

et al. 2017

American J of Med Genetics Pt A

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“…100-102; Table 2), although NB is not generally considered a classic LFS tumor. In addition, patients with BWS due to mutations in CDKN1C have a 2% to 5% risk of developing NB (103,104), which is sufficiently high to warrant NB screening in these patients. Furthermore, several large studies looking broadly at somatic and germline mutations in children with cancer identified germline mutations in several other genes, including SDHB, APC, BRCA1, and BRCA2, in children with NB (105)(106)(107).…”

Section: Rasopathiesmentioning

confidence: 99%

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Kamihara

Bourdeaut

Foulkes

et al. 2017

Clinical Cancer Research

175

132

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Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors. However, there is not yet a clear consensus on what, if any, screening protocol would be most appropriate and effective. Neuroblastoma (NB), an embryonal tumor of the sympathetic nervous system, accounts for 15% of pediatric cancer deaths. Prior studies suggest that about 2% of patients with NB have an underlying genetic predisposition that may have contributed to the development of NB. Germline mutations in ALK and PHOX2B account for most familial NB cases. However, other cancer predisposition syndromes, such as Li-Fraumeni syndrome, RASopathies, and others, may be associated with an increased risk for NB. No established protocols for NB surveillance currently exist. Here, we describe consensus recommendations on hereditary RB and NB from the AACR Childhood Cancer Predisposition Workshop.

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“…Risk is especially increased in cases of BWS with uniparental disomy on chromosome 11p15.5, in which incidence is increased to 4.7%. For this reason, routine screening with ultrasound and serum AFP is recommended in order to detect the disease at earlier stages 32 . Another example is that of FAP, where children have a 750- to 7,500-fold increased risk of hepatoblastoma development supporting the utility for routine ultrasound screening 26 .…”

Section: Cellular and Molecular Basis Of Hepatoblastomamentioning

confidence: 99%

Novel Advances in Understanding of Molecular Pathogenesis of Hepatoblastoma: A Wnt/β-Catenin Perspective

Bell

Ranganathan²,

Tao³

et al. 2017

gene expr

104

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Hepatoblastoma is the most common pediatric liver malignancy, typically striking children within the first 3 years of their young lives. While advances in chemotherapy and newer surgical techniques have improved survival in patients with localized disease, unfortunately, for the 25% of patients with metastasis, the overall survival remains poor. These tumors, which are thought to arise from hepatic progenitors or hepatoblasts, hence the name hepatoblastoma, can be categorized by histological subtyping based on their level of cell differentiation. Genomic and histological analysis of human tumor samples has shown exon-3 deletions or missense mutations in gene coding for β-catenin, a downstream effector of the Wnt signaling pathway, in up to 90% of hepatoblastoma cases. The current article will review key aberrations in molecular pathways that are implicated in various subtypes of hepatoblastoma with an emphasis on Wnt signaling. It will also discuss cooperation among components of pathways such as β-catenin and Yes-associated protein in cancer development. Understanding the complex network of molecular signaling in oncogenesis will undoubtedly aid in the discovery of new therapeutics to help combat hepatoblastoma.

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Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

Cited by 126 publications

References 41 publications

Nomenclature and definition in asymmetric regional body overgrowth

Nomenclature and definition in asymmetric regional body overgrowth

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Novel Advances in Understanding of Molecular Pathogenesis of Hepatoblastoma: A Wnt/β-Catenin Perspective

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